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Page 1
Mutations in DONSON disrupt replication fork stability and cause microcephalic dwarfism.
Reynolds JJ, Bicknell LS, Carroll P, Higgs MR, Shaheen R, Murray JE, Papadopoulos DK, Leitch A, Murina O, Tarnauskaitė Ž, Wessel SR, Zlatanou A, Vernet A, von Kriegsheim A, Mottram RM, Logan CV, Bye H, Li Y, Brean A, Maddirevula S, Challis RC, Skouloudaki K, Almoisheer A, Alsaif HS, Amar A, Prescott NJ, Bober MB, Duker A, Faqeih E, Seidahmed MZ, Al Tala S, Alswaid A, Ahmed S, Al-Aama JY, Altmüller J, Al Balwi M, Brady AF, Chessa L, Cox H, Fischetto R, Heller R, Henderson BD, Hobson E, Nürnberg P, Percin EF, Peron A, Spaccini L, Quigley AJ, Thakur S, Wise CA, Yoon G, Alnemer M, Tomancak P, Yigit G, Taylor AM, Reijns MA, Simpson MA, Cortez D, Alkuraya FS, Mathew CG, Jackson AP, Stewart GS. Reynolds JJ, et al. Among authors: murina o. Nat Genet. 2017 Apr;49(4):537-549. doi: 10.1038/ng.3790. Epub 2017 Feb 13. Nat Genet. 2017. PMID: 28191891 Free PMC article.
TRAIP promotes DNA damage response during genome replication and is mutated in primordial dwarfism.
Harley ME, Murina O, Leitch A, Higgs MR, Bicknell LS, Yigit G, Blackford AN, Zlatanou A, Mackenzie KJ, Reddy K, Halachev M, McGlasson S, Reijns MAM, Fluteau A, Martin CA, Sabbioneda S, Elcioglu NH, Altmüller J, Thiele H, Greenhalgh L, Chessa L, Maghnie M, Salim M, Bober MB, Nürnberg P, Jackson SP, Hurles ME, Wollnik B, Stewart GS, Jackson AP. Harley ME, et al. Among authors: murina o. Nat Genet. 2016 Jan;48(1):36-43. doi: 10.1038/ng.3451. Epub 2015 Nov 23. Nat Genet. 2016. PMID: 26595769 Free PMC article.
cGAS surveillance of micronuclei links genome instability to innate immunity.
Mackenzie KJ, Carroll P, Martin CA, Murina O, Fluteau A, Simpson DJ, Olova N, Sutcliffe H, Rainger JK, Leitch A, Osborn RT, Wheeler AP, Nowotny M, Gilbert N, Chandra T, Reijns MAM, Jackson AP. Mackenzie KJ, et al. Among authors: murina o. Nature. 2017 Aug 24;548(7668):461-465. doi: 10.1038/nature23449. Epub 2017 Jul 24. Nature. 2017. PMID: 28738408 Free PMC article.
Biallelic variants in DNA2 cause microcephalic primordial dwarfism.
Tarnauskaitė Ž, Bicknell LS, Marsh JA, Murray JE, Parry DA, Logan CV, Bober MB, de Silva DC, Duker AL, Sillence D, Wise C, Jackson AP, Murina O, Reijns MAM. Tarnauskaitė Ž, et al. Among authors: murina o. Hum Mutat. 2019 Aug;40(8):1063-1070. doi: 10.1002/humu.23776. Epub 2019 Jun 23. Hum Mutat. 2019. PMID: 31045292 Free PMC article.
CRISPR screens identify genomic ribonucleotides as a source of PARP-trapping lesions.
Zimmermann M, Murina O, Reijns MAM, Agathanggelou A, Challis R, Tarnauskaitė Ž, Muir M, Fluteau A, Aregger M, McEwan A, Yuan W, Clarke M, Lambros MB, Paneesha S, Moss P, Chandrashekhar M, Angers S, Moffat J, Brunton VG, Hart T, de Bono J, Stankovic T, Jackson AP, Durocher D. Zimmermann M, et al. Among authors: murina o. Nature. 2018 Jul;559(7713):285-289. doi: 10.1038/s41586-018-0291-z. Epub 2018 Jul 4. Nature. 2018. PMID: 29973717 Free PMC article.
PRIM1 deficiency causes a distinctive primordial dwarfism syndrome.
Parry DA, Tamayo-Orrego L, Carroll P, Marsh JA, Greene P, Murina O, Uggenti C, Leitch A; Scottish Genomes Partnership; Káposzta R, Merő G, Nagy A, Orlik B, Kovács-Pászthy B, Quigley AJ, Riszter M, Rankin J, Reijns MAM, Szakszon K, Jackson AP; Members of the Scottish Genome Partnership include. Parry DA, et al. Among authors: murina o. Genes Dev. 2020 Nov 1;34(21-22):1520-1533. doi: 10.1101/gad.340190.120. Epub 2020 Oct 15. Genes Dev. 2020. PMID: 33060134 Free PMC article.
RNase H2, mutated in Aicardi-Goutières syndrome, promotes LINE-1 retrotransposition.
Benitez-Guijarro M, Lopez-Ruiz C, Tarnauskaitė Ž, Murina O, Mian Mohammad M, Williams TC, Fluteau A, Sanchez L, Vilar-Astasio R, Garcia-Canadas M, Cano D, Kempen MH, Sanchez-Pozo A, Heras SR, Jackson AP, Reijns MA, Garcia-Perez JL. Benitez-Guijarro M, et al. Among authors: murina o. EMBO J. 2018 Aug 1;37(15):e98506. doi: 10.15252/embj.201798506. Epub 2018 Jun 29. EMBO J. 2018. PMID: 29959219 Free PMC article.
HELQ promotes RAD51 paralogue-dependent repair to avert germ cell loss and tumorigenesis.
Adelman CA, Lolo RL, Birkbak NJ, Murina O, Matsuzaki K, Horejsi Z, Parmar K, Borel V, Skehel JM, Stamp G, D'Andrea A, Sartori AA, Swanton C, Boulton SJ. Adelman CA, et al. Among authors: murina o. Nature. 2013 Oct 17;502(7471):381-4. doi: 10.1038/nature12565. Epub 2013 Sep 4. Nature. 2013. PMID: 24005329 Free PMC article.
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